MSUD

Today I Learned 8/7/11

…about the Maple Syrup Urine Disease (MSUD).

Yes, you heard me correctly, the Maple Syrup Urine Disease.

I didn’t believe it till I actually googled the disease and found an NIH website describing it here.

This disease is a hereditary metabolism disorder that results in the inability to breakdown certain parts of proteins. As a result, the urine of affected individuals will smells like…yes you guessed it…maple syrup. That’s pretty awesome.

Spotlight On: Donations - Never Pray For Patience

Every month, we here at The Band choose to highlight a specific word or condition that we want to throw into the spotlight and talk about. For April, we’ve chosen to spotlight the word - and the act - “donation.” What do you donate? Are you a transplant parent? Do you have a transplant story for us? Have you donated blood, organ, or tissues? What about time? Or items for charity?

We want to know what you’ve donated in your life.

It’s time to band back together for donation!

I’ve been told that if you pray for patience, God may put something in your life that tests your patience. 

Oh, He definitely has.

My daughter was born with Maple Syrup Urine Disease, a rare, potentially fatal, metabolic disorder. Currently, the only cure for Maple Syrup Urine Disease is a liver transplant.  

After she hit puberty, we realized that she would be going into metabolic crisis every month for the next forty or so years, we decided to pursue the transplant.

That was over two years ago.  

We honestly did not anticipate our wait being this long. During this waiting period, our lives are in limbo, and my daughter is -understandably - frustrated.  

cannot stress enough the importance of registering to be an organ donor. With more donors, more organs would be available, and the waiting list would be that much shorter. More lives would be saved.

And fewer people would be praying for patience.

Public Health Fact of the Day

Maple syrup urine disease (MSUD), which gets its name from the odor of the affected baby’s urine, is a serious metabolic disorder that affects the way amino acids isoleucine, leucine, and valine are broken down. When these amino acids are not used to build up proteins, they are broken down and used for energy by an enzyme complex (enzymes are typically proteins) called branched-chain α-ketoacid dehydrogenase complex. Individuals with MSUD have a mutation for one of the proteins that make up this complex, resulting in a high build up of these amino acids in the body that can degenerate brain cells or even lead to death if not treated. MSUD is a recessive disorder and it generally occurs in 1 in 180,000 babies, but in some populations such as children of Amish, Mennonite, or Jewish descent the prevalence is higher. Symptoms for the disease may occur within 3-4 days after birth: baby will have sweet-smelling urine, exhibit loss of appetite, or be fussy. Therapy involves monitoring and restricting the patient’s diet to prevent brain damage. That means babies have to take a special formula that doesn’t contain isoleucine, leucine, or valine and adults with the disease must avoid foods high in protein like meat, nuts, and eggs. 

For more information, visit this link: http://learn.genetics.utah.edu/content/disorders/whataregd/msud/